Results 41 to 50 of about 4,891,805 (263)

Age-related and disease locus-specific mechanisms contribute to early remodelling of chromatin structure in Huntington’s disease mice

open access: yesNature Communications, 2021
The dynamics of chromatin and transcriptional changes underlying Huntington’s disease remain poorly understood. Here the authors use a Huntington’s mouse model to profile the striatal chromatin landscape, finding that the Huntington’s mutation ...
Rafael Alcalá-Vida   +13 more
doaj   +1 more source

Analysis of White Adipose Tissue Gene Expression Reveals CREB1 Pathway Altered in Huntington's Disease. [PDF]

open access: yes, 2015
In addition to classical neurological symptoms, Huntington's disease (HD) is complicated by peripheral pathology and both the mutant gene and the protein are found in cells and tissues throughout the body.
Haider, Salman   +16 more
core   +1 more source

Metformin treatment reduces motor and neuropsychiatric phenotypes in the zQ175 mouse model of Huntington disease

open access: yesExperimental and Molecular Medicine, 2019
Huntington’s disease: Diabetes drug limits disease-related degeneration in mice Metformin, an existing drug for diabetes, shows promise in alleviating symptoms of early Huntington’s disease in mouse models. Huntington’s disease is a genetic disorder that
Ana Sanchis   +6 more
doaj   +1 more source

Combined use of a double-lumen tube and Fogarty catheter to prevent the endobronchial spread of infection: a case report [PDF]

open access: yesKorean Journal of Anesthesiology, 2016
Huntington's disease is a neurodegenerative disorder with an autosomal dominant inheritance pattern. Patients with Huntington's disease show an increased risk of aspiration pneumonia when the pharyngeal muscle is invaded.
Jaewon Kim   +3 more
doaj   +1 more source

Innovative approaches to monitor mutant huntingtin and to facilitate its degradation in Huntington's disease models [PDF]

open access: yes, 2011
Huntington’s disease (HD) is a dominant genetic neurodegenerative disease caused by a mutation in the exon 1 of the huntingtin gene. The clinical symptoms, such as motor disturbances (chorea), cognitive decline and psychiatric impairments are usually ...
Baldo, Barbara
core   +1 more source

The Role of Innovation Technology in the Rehabilitation of Patients Affected by Huntington’s Disease: A Scoping Review

open access: yesBiomedicines, 2023
Huntington’s disease is an autosomal dominant neurodegenerative disease caused by the repetition of cytosine, adenine, and guanine trinucleotides on the short arm of chromosome 4p16.3 within the Huntingtin gene.
Maria Grazia Maggio   +4 more
doaj   +1 more source

From patient advocacy to patient‐driven research: Building active partnerships beginning at the bench to reach the bedside

open access: yesFEBS Open Bio, EarlyView.
Research is strongest when conducted alongside patients, not just about them. Patient research organizations help integrate patient perspectives into research priorities, study design, and scientific meetings, leading to meaningful patient outcomes and development of relevant therapies.
Jenica H. Kakadia   +9 more
wiley   +1 more source

Factor analysis of the hospital anxiety and depression scale among a Huntington's disease population

open access: yes, 2015
Introduction: Depression and anxiety are common in Huntington's disease, a genetic neurodegenerative disorder. There is a need for measurement tools of mood to be validated within a Huntington's disease population.
ROMANO, SILVIA   +5 more
core   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw   +5 more
wiley   +1 more source

Huntington’s disease: Neuropsychiatric manifestations of Huntington’s disease [PDF]

open access: yesAustralasian Psychiatry, 2018
Objectives: Huntington’s disease (HD) is a profoundly incapacitating, and ultimately fatal, neurodegenerative disease. HD is presently incurable, so the current goal is to allow affected individuals to live as well as possible with the illness, to maximise functional independence and quality of life for the ...
Anita MY Goh   +5 more
openaire   +3 more sources

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